Table 4 of
Garnai, Mol Vis 2014; 20:1579-1593. Table 4 of
Garnai, Mol Vis 2014; 20:1579-1593.
Table 4. Prediction of the effect of each of the changes on the βB2-crystallin protein.
| dbSNP | rs2330991 | rs2330992 | rs4049504 |
|---|---|---|---|
| Allele | C/T | A/G | C/T |
| Protein position | 145 | 147 | 150 |
| Chr position (GRCh37.p5) | 22: 25,625,529 | 22: 25,625,536 | 22: 25,625,545 |
| Residue change | R [Arg] → W [Trp] | Q [Gln] → R [Arg] | T [Thr] → M [Met] |
| Allele change |
|
C
|
A
|
| PROVEAN score | −5.605 | −1.069 | −4.830 |
| PROVEAN prediction | deleterious | neutral | deleterious |
| PolyPhen-2 score | 0.999 | 0.006 | 0.997 |
| PolyPhen-2 interpretation | probably damaging | benign | probably damaging |